Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report
Journal of Genetic Medicine
;
: 47-51, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-83941
ABSTRACT
Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Artérias
/
Dermatopatias Genéticas
/
Úvula
/
Fissura Palatina
/
Doenças do Tecido Conjuntivo
/
Constrição Patológica
/
Malformações Vasculares
/
Síndrome de Loeys-Dietz
/
Cefaleia
/
Hipertelorismo
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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